Seminar by Prof.Yosef Yarom "Cerebellum and Autism"

<Speaker> Prof.Yosef Yarom

<Affiliation> Professor of Neurobiology Life Science Institute and the Center for Brain sciences, Hebrew University Jerusalem, ISRAEL

<Title>Cerebellum and Autism

<Abstract>
Autism spectrum disorder is a neurodevelopmental disorder characterized by impaired social interactions, communication deficits and repetitive behavior.In postmortem studies of brains of individuals with autism, cerebellar abnormality is the most replicated finding. We generated conditional knockout mice with brain-specific mutation in Pogz, a heterochromatin regulator recurrently mutated in ASD and other neurodevelopmental disorders and demonstrated that these mice display phenotypes that resemble the human condition. We found a significant upregulation of gene expression, most notably in the cerebellum. Furthermore, Pogz deficiency was associated with a significant reduction in the firing frequency of simple and complex spikes in cerebellar Purkinje cells although the electrophysiological properties of the Purkinje cells were unaffected. On the other hand, an increase in amplitude of the inhibitory synaptic input can account for the reduction in simple spike activity.